Publications:

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The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet Journal Of Rare Diseases

Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R

Publication Date: 2023-01-09

Variant appearance in text: GLA: 560T>G; Met187Arg

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

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Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease.

Orphanet Journal Of Rare Diseases

Atiskova, Yevgeniya Y; Wildner, Jan J; Spitzer, Martin Stephan MS; Aries, Charlotte C; Muschol, Nicole N; Dulz, Simon S

Publication Date: 2021-11-20

Variant appearance in text: GLA: M187R

PubMed Link: 34801073

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2080.pdf

View BVdb publication page

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Corneal densitometry: a potential indicator for early diagnosis of Fabry disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Li, Senmao S; Siggel, Robert R; Guo, Yongwei Y; Loreck, Niklas N; Rokohl, Alexander C AC; Kurschat, Christine C; Heindl, Ludwig M LM

Publication Date: 2021-04

Variant appearance in text: GLA: 560T>G; M187R

PubMed Link: 33258999

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 560T>G; M187R

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: M187R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Scientific Reports

Hernández-Romero, Diana D; Sánchez-Quiñones, Jessica J; Vílchez, Juan Antonio JA; Rivera-Caravaca, José Miguel JM; de la Morena, Gonzalo G; Lip, Gregory Y H GYH; Climent, Vicente V; Marín, Francisco F

Publication Date: 2019-04-17

Variant appearance in text: GLA: M187R

PubMed Link: 30996283

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42727.pdf

View BVdb publication page

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: M187R

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

View BVdb publication page

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